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Printable Test Catalog - OU Medicine

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SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 5 mL<br />

TEST AVAILABILITY: Daily<br />

METHODOLOGY: Polymerase Chain Reaction (PCR)<br />

CPT: 83891; 83898 x 8; 83904 x 8; 83912<br />

[SMADNA] SPINAL MUSCULAR ATROPHY DNA<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 8-10 days<br />

REFERENCE RANGE: No mutation detected<br />

METHODOLOGY: Polymerase Chain Reaction (PCR) amplification<br />

CLINICAL USE: Confirmation of diagnosis; prenatal testing<br />

CPT: 83890, 83892 x 3, 83894 x 2, 83898 x 6, 83912<br />

[SMC1A] SMC1A-CORNELIA de LANGE SYNDR<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 3 mL<br />

TEST AVAILABILITY: Monday-Thursday only<br />

TURNAR<strong>OU</strong>ND TIME: 4-6 weeks<br />

METHODOLOGY: Polymerase Chain Reaction (PCR)<br />

CPT: 83891; 83898 x 4; 83904 x 9; 83912<br />

[SMCD] SCHMID METAPHYSEAL CHOND (SMCD<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIMEN VOLUME: 14 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 4 weeks<br />

METHODOLOGY: Polymerase Chain Reaction (PCR)<br />

CPT: 83891; 83894; 83898 x 6; 83904 x 12; 83909 x 12; 83912<br />

[SMS] SMITH-MAGENIS SYNDROME<br />

SPECIMEN REQUIRED: Room temperature whole blood<br />

TUBE OR CONTAINER: Dark green (sodium heparin)<br />

VOLUME: 5 mLs (child/adult)<br />

2 mLs (newborn)<br />

MINIMUM VOLUME: 3 mLs (child/adult)<br />

1 mL (newborn)<br />

TURN-AR<strong>OU</strong>ND-TIME: 10-12 days<br />

METHODOLOGY: Fluorescence in situ hybridization (FISH)

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